Ube3b ubiquitin protein ligase E3B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ube3bprovided by MGI
Official Full Name: ubiquitin protein ligase E3Bprovided by MGI
Primary source: MGI:MGI:1891295
See related: Ensembl:ENSMUSG00000029577 AllianceGenome:MGI:1891295
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Predicted to enable ubiquitin protein ligase activity. Involved in regulation of postsynapse assembly. Is active in glutamatergic synapse and postsynapse. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study Kaufman oculocerebrofacial syndrome. Human ortholog(s) of this gene implicated in Kaufman oculocerebrofacial syndrome. Orthologous to human UBE3B (ubiquitin protein ligase E3B). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis adult (RPKM 52.8), adrenal adult (RPKM 51.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 55.99 cM

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (114518578..114559226)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (114380517..114421169)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The murine ortholog of Kaufman oculocerebrofacial syndrome gene Ube3b is crucial for the maintenance of the excitatory synapses in the young adult stage.
Title: The murine ortholog of Kaufman oculocerebrofacial syndrome gene Ube3b is crucial for the maintenance of the excitatory synapses in the young adult stage.
The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Title: The murine ortholog of Kaufman oculocerebrofacial syndrome protein Ube3b regulates synapse number by ubiquitinating Ppp3cc.
Our data reveal the pleiotropic effects of UBE3B deficiency and reinforce the physiological importance of ubiquitination in neuronal development and function in mammals.
Title: Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_12083-12084:1008774253:1 (e-PCR)
- UniSTS:267333

Ube3b (e-PCR), detects polymorphism
- UniSTS:507297

RH136363 (e-PCR)
- UniSTS:210353

AI449831 (e-PCR)
- UniSTS:159428

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin protein ligase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein polyubiquitination	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein polyubiquitination	IEA Inferred from Electronic Annotation more info
involved_in regulation of postsynapse assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of postsynapse assembly	IEP Inferred from Expression Pattern more info	PubMed
involved_in regulation of postsynapse assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in ubiquitin-dependent protein catabolic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
is_active_in glutamatergic synapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in glutamatergic synapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in glutamatergic synapse	IMP Inferred from Mutant Phenotype more info	PubMed
is_active_in postsynapse	IDA Inferred from Direct Assay more info	PubMed
is_active_in postsynapse	IEP Inferred from Expression Pattern more info	PubMed
is_active_in postsynapse	IMP Inferred from Mutant Phenotype more info	PubMed
located_in postsynaptic density	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: ubiquitin-protein ligase E3B

Names: HECT-type ubiquitin transferase E3B

NP_001318148.1

EC 2.3.2.26

NP_001411684.1

EC 2.3.2.26

NP_001411685.1

EC 2.3.2.26

NP_001411686.1

EC 2.3.2.26

NP_001411687.1

EC 2.3.2.26

NP_473434.2

EC 2.3.2.26

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001331219.2 → NP_001318148.1 ubiquitin-protein ligase E3B isoform 2

Status: VALIDATED

Description

Transcript Variant: This variant (2) lacks an exon in the 5' region and initiates translation at a downstream start codon compared to variant 1. The encoded isoform (2) has a shorter N-terminus than isoform 1.

Source sequence(s)

AC132102
NM_001424755.1 → NP_001411684.1 ubiquitin-protein ligase E3B isoform 1

Status: VALIDATED

Source sequence(s)

AC132102

UniProtKB/Swiss-Prot

Q8K068, Q9ES34
NM_001424756.1 → NP_001411685.1 ubiquitin-protein ligase E3B isoform 3

Status: VALIDATED

Source sequence(s)

AC132102
NM_001424757.1 → NP_001411686.1 ubiquitin-protein ligase E3B isoform 4

Status: VALIDATED

Source sequence(s)

AC132102
NM_001424758.1 → NP_001411687.1 ubiquitin-protein ligase E3B isoform 5

Status: VALIDATED

Source sequence(s)

AC132102
NM_054093.4 → NP_473434.2 ubiquitin-protein ligase E3B isoform 1

See identical proteins and their annotated locations for NP_473434.2

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).

Source sequence(s)

AC132102

Consensus CDS

CCDS19564.1

UniProtKB/Swiss-Prot

Q8K068, Q9ES34

Related

ENSMUSP00000073652.6, ENSMUST00000074002.12

Conserved Domains (2) summary

smart00119
Location:709 → 1067

HECTc; Domain Homologous to E6-AP Carboxyl Terminus with

cd00078
Location:684 → 1068

HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...